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More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.
49 kDa cytoskeletal protein; AI448593; beaded filament protein CP49; beaded filament structural protein 2; beaded filament structural protein 2, phakinin; bfps2, Cytoskeletal protein, 49-kD; BFSP2; CP 47; CP47; CP49; CTRCT12; DKEYP-73D8.2; hypothetical protein LOC494090; lens fiber cell beaded filament protein CP 47; Lens fiber cell beaded filament protein CP 49; lens intermediate filament-like light; LIFL-L; MGC142078; MGC142080; phakinin; PHAKOSIN; zgc:103750
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